Canonical Allele Identifier: CA9817228

Gene: SNTA1

Linked Data

• dbSNP Id: rs764612744
• ExAC: 20:32026712 G / A
• gnomAD v2: 20-32026712-G-A
• gnomAD v4: 20-33438906-G-A
• MyVariant Identifiers: chr20:g.32026712G>A (hg19) ; chr20:g.33438906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438906G>A , CM000682.2:g.33438906G>A	GRCh38
NC_000020.10:g.32026712G>A , CM000682.1:g.32026712G>A	GRCh37
NC_000020.9:g.31490373G>A	NCBI36
NG_011622.1:g.9987C>T , LRG_332:g.9987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.431C>T MANE Select	ENSP00000217381.2:p.Ser144Phe
ENST00000217381.2:c.431C>T	ENSP00000217381.2:p.Ser144Phe
NM_003098.2:c.431C>T , LRG_332t1:c.431C>T	NP_003089.1:p.Ser144Phe
XM_005260517.1:c.431C>T	XP_005260574.1:p.Ser144Phe
XM_011529007.1:c.431C>T	XP_011527309.1:p.Ser144Phe
XM_011529008.1:c.431C>T	XP_011527310.1:p.Ser144Phe
XR_936612.1:n.664C>T
XM_024451971.1:c.104C>T	XP_024307739.1:p.Ser35Phe
NM_003098.3:c.431C>T MANE Select	NP_003089.1:p.Ser144Phe